IngentaConnect A point mutation in the human estrogen receptor gene is associate...

Authors: Wang M.¹; Dotzlaw H.¹; Fuqua S.A.W.²; Murphy L.C.¹

Source: Breast Cancer Research and Treatment, Volume 44, Number 2, June 1997 , pp. 145-151(7)

Publisher: Springer

Abstract:

A novel ER-like mRNA containing a 69 nucleotide insertion precisely between exon 5 and 6 sequences was previously identified in human breast cancer biopsy samples. Data are presented which suggest that the 69 nucleotide sequence is normally present in intron 5 of the human estrogen receptor gene. The region corresponding to and surrounding this 69 nucleotide sequence was cloned and the nucleotide sequence determined. Cloning and sequencing of the corresponding region in genomic DNA isolated from a breast tumor expressing the 69 nucleotide inserted ER mRNA, revealed an A rarr G point mutation immediately 3 prime to the 69 nucleotide sequence. This point mutation resulted in the generation of a consensus splice donor site. A consensus splice acceptor site sequence is normally present immediately 5 prime to the 69 nucleotide sequence. These data are consistent with the 69 nucleotide sequence being recognized as an exon by the splicing machinery, and resulting in processing of a mature ER mRNA containing the 69 nucleotide insert.

Keywords: estrogen receptor; mutation; breast cancer; gene expression

Language: English

Document Type: Regular paper

Affiliations: 1: Department of Biochemistry, University of Manitoba, Winnipeg, Manitoba, R3E OW3, Canada 2: Department of Medicine/Division of Oncology, University of Texas Health Science Center, San Antonio, Texas, 78284, USA

The full text electronic article is available for purchase. You will be able to download the full text electronic article after payment.

$47.00 plus tax Refund Policy

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion